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Aliases for ABHD6 Gene

Aliases for ABHD6 Gene

  • Abhydrolase Domain Containing 6 2 3 5
  • EC 3.1.1.23 4 63
  • Abhydrolase Domain-Containing Protein 6 4
  • 2-Arachidonoylglycerol Hydrolase 4

External Ids for ABHD6 Gene

Previous GeneCards Identifiers for ABHD6 Gene

  • GC03P058078
  • GC03P058180

Summaries for ABHD6 Gene

GeneCards Summary for ABHD6 Gene

ABHD6 (Abhydrolase Domain Containing 6) is a Protein Coding gene. Among its related pathways are Circadian entrainment and Effects of PIP2 hydrolysis. GO annotations related to this gene include acylglycerol lipase activity.

UniProtKB/Swiss-Prot for ABHD6 Gene

  • Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).

Tocris Summary for ABHD6 Gene

No data available for Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD6 Gene

Genomics for ABHD6 Gene

Regulatory Elements for ABHD6 Gene

Enhancers for ABHD6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABHD6 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABHD6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABHD6 Gene

Chromosome:
3
Start:
58,237,506 bp from pter
End:
58,295,693 bp from pter
Size:
58,188 bases
Orientation:
Plus strand

Genomic View for ABHD6 Gene

Genes around ABHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD6 Gene

Proteins for ABHD6 Gene

  • Protein details for ABHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV23-ABHD6_HUMAN
    Recommended name:
    Monoacylglycerol lipase ABHD6
    Protein Accession:
    Q9BV23
    Secondary Accessions:
    • B2R7Y9
    • Q6ZMF7

    Protein attributes for ABHD6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD6 Gene

Proteomics data for ABHD6 Gene at MOPED

Post-translational modifications for ABHD6 Gene

  • Ubiquitination at Lys 223
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD6 Gene

Domains & Families for ABHD6 Gene

Gene Families for ABHD6 Gene

Suggested Antigen Peptide Sequences for ABHD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV23

UniProtKB/Swiss-Prot:

ABHD6_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD6: view

Function for ABHD6 Gene

Molecular function for ABHD6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=159 uM for 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; Vmax=45 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269 PubMed:22969151};
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolyzes glycerol monoesters of long-chain fatty acids.
UniProtKB/Swiss-Prot Function:
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).

Enzyme Numbers (IUBMB) for ABHD6 Gene

Phenotypes for ABHD6 Gene

GenomeRNAi human phenotypes for ABHD6:
genes like me logo Genes that share phenotypes with ABHD6: view

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD6 Gene

Localization for ABHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD6 Gene

Membrane; Single-pass type II membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABHD6 Gene COMPARTMENTS Subcellular localization image for ABHD6 gene
Compartment Confidence
extracellular 5
plasma membrane 5
mitochondrion 4
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with ABHD6: view

Pathways & Interactions for ABHD6 Gene

genes like me logo Genes that share pathways with ABHD6: view

Interacting Proteins for ABHD6 Gene

Gene Ontology (GO) - Biological Process for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009395 phospholipid catabolic process IEA --
GO:0046464 acylglycerol catabolic process IDA 22969151
GO:0046889 positive regulation of lipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with ABHD6: view

No data available for SIGNOR curated interactions for ABHD6 Gene

Drugs & Compounds for ABHD6 Gene

(2) Drugs for ABHD6 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Experimental Pharma 205
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(5) Additional Compounds for ABHD6 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
(Z)-Pugnac
132489-69-1
2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-pyrimidinone
  • 2,6-Diamino-4(1H)-pyrimidinone
  • 2,6-Diamino-4(3H)-pyrimidinone
  • 2,6-Diamino-4-hydroxypyrimidine
56-06-4
Flurofamide
70788-28-2
Lys-gamma3-MSH
156159-18-1

(5) Tocris Compounds for ABHD6 Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor 132489-69-1
2,4-Diamino-6-hydroxypyrimidine Inhibits tetrahydrobiopterin synthesis and thus NOS activity 56-06-4
Flurofamide Urease inhibitor 70788-28-2
Lys-gamma3-MSH Pro-opiomelanocortin (POMC) derived peptide 156159-18-1
WWL 70 Potent ABHD6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with ABHD6: view

Transcripts for ABHD6 Gene

Unigene Clusters for ABHD6 Gene

Abhydrolase domain containing 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for ABHD6 Gene

GeneLoc Exon Structure for
ABHD6
ECgene alternative splicing isoforms for
ABHD6

Expression for ABHD6 Gene

mRNA expression in normal human tissues for ABHD6 Gene

Protein differential expression in normal tissues from HIPED for ABHD6 Gene

This gene is overexpressed in Nasal epithelium (44.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABHD6 Gene



SOURCE GeneReport for Unigene cluster for ABHD6 Gene Hs.476454

genes like me logo Genes that share expression patterns with ABHD6: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ABHD6 Gene

Orthologs for ABHD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABHD6 35
  • 90.7 (n)
  • 94.96 (a)
ABHD6 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD6 35
  • 91.3 (n)
  • 96.44 (a)
ABHD6 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd6 35
  • 90.12 (n)
  • 94.01 (a)
Abhd6 16
Abhd6 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABHD6 35
  • 99.7 (n)
  • 99.7 (a)
ABHD6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd6 35
  • 88.33 (n)
  • 93.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ABHD6 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD6 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD6 35
  • 74.93 (n)
  • 80.3 (a)
ABHD6 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD6 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd6 35
  • 71.12 (n)
  • 75.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia abhd6-prov 35
zebrafish
(Danio rerio)
Actinopterygii abhd6a 35
  • 67.16 (n)
  • 69.64 (a)
Dr.13980 35
abhd6a 36
  • 69 (a)
OneToMany
abhd6b 36
  • 64 (a)
OneToMany
Species with no ortholog for ABHD6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABHD6 Gene

ENSEMBL:
Gene Tree for ABHD6 (if available)
TreeFam:
Gene Tree for ABHD6 (if available)

Paralogs for ABHD6 Gene

No data available for Paralogs for ABHD6 Gene

Variants for ABHD6 Gene

Sequence variations from dbSNP and Humsavar for ABHD6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs6924 -- 58,294,334(-) GGGCT(A/G)GAGCA utr-variant-3-prime
rs6925 -- 58,294,362(+) GCAGG(A/G)TACAT utr-variant-3-prime
rs8723 -- 58,294,584(+) TTTCA(A/G)TGTGC utr-variant-3-prime
rs9986 -- 58,294,679(+) TAAAC(A/G)GCTGT utr-variant-3-prime
rs14896 -- 58,294,571(-) GAAAA(A/G)AGGCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABHD6 Gene

Variant ID Type Subtype PubMed ID
nsv528147 CNV Gain 19592680
nsv834703 CNV Gain 17160897
esv2660248 CNV Deletion 23128226

Variation tolerance for ABHD6 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD6 Gene

HapMap Linkage Disequilibrium report
ABHD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD6 Gene

Disorders for ABHD6 Gene

Relevant External Links for ABHD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD6

No disorders were found for ABHD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD6 Gene

Publications for ABHD6 Gene

  1. Biochemical and pharmacological characterization of human I+/I^-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D. … Laitinen J.T. (J. Lipid Res. 2012) 2 3 4 67
  2. An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines. (PMID: 18360779) Li F. … Ji C. (Mol. Biol. Rep. 2009) 3 23
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. (PMID: 24534757) Oparina N.Y. … Kozyrev S.V. (Ann. Rheum. Dis. 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for ABHD6 Gene

Sources for ABHD6 Gene

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